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No-one in the world can beat this brave girl’s rare condition

A TWO-YEAR-OLD tot from Leicester has been diagnosed with such a rare condition that she is the only person in the world carrying it.

Isla Kilpatrick-Screaton suffers from a unique strand of mandibuloacral dysplasia, also known as “Benjamin Button disease”, because it causes rapid ageing of the cells.

But when tests results showed a mutation in her genes which had never been seen before, it had left medics baffled. Her parents were even told to “start Googling” to find out what was wrong with their daughter.

Her mother, Stacey, 33, and 36-year-old father Kyle, face a daily battle to care for Isla, who faces an uncertain future because she has a heart condition and narrow airways, which are causing her breathing difficulties, reports Birmingham Live.

Isla, who weighs just 15lbs and has only just started to crawl, can say few words. Her main form of communication is Makaton sign and symbol language, used in the CBeebies show Something Special.

Her parents have been warned to expect to see her cells aging rapidly, which will make her a look a lot older than her years.

Stacey, who quit her job as a teaching assistant to become Isla’s full-time carer, said: “It takes a lot out of the family.

“When we had the diagnosis, the genetic consultant said Isla was the only one in the world to have this particular misspelling of the gene, which causes the mutation.

“We were told, light-heartedly, to “get Googling”. But even with the rarest conditions, there is a network of carriers, but we don’t even have that.

“They couldn’t tell us how she was going to progress. No one else has the mutation of the gene, which causes this deficiency.

“There appears to be only seven examples ever, in the medical literature of mandibuloacral dysplasia, but none is this particular mutation.”

Despite her health problems, her parents say she is a happy little girl who enjoys nothing more than playing with her Paige, her seven-year-old sister.

Isla nearly suffocated after being born at 36 weeks at Leicester Royal Hospital weighing 5lbs 10oz, on 2nd February 2017.

She was hospitalised for a month before she went home, but was rushed back to hospital soon after, after turning blue.

Medics had to resuscitate her after another emergency operation when she was three months old, and it seemed that her tongue was blocking her airway, every time she became upset.

In October 2017 she was diagnosed with a condition known as mandibuloacral dysplasia, which causes a variety of abnormalities, involving bone-development and

skin-colouring.

Isla now has a 2.5mm tube down her throat called a tracheostomy and a gastrostomy, to enable her to be fed

high-calorie milk and small items of solid food.

Isla with her sister Paige in 2017

 

Stacey added: “Isla makes herself understood and is very clever. She is very expressive and communicative with us and Paige.

“She can’t cry, so when she sleeps, she is attached to a heart monitor, and an alarm goes off when she wakes up. This means we can sleep at night.

“She has only just started crawling, which is late, because she’s very petite in all ways. But she can walk with the aid of frame, which gives her the freedom of a child to run away from us whenever she wants.”

Her mother added: “Her symptoms are narrow airways; pale, thin skin and a small jaw, which means her tongue is far back in her throat, which can stop her breathing.

“She is either cold or red-hot. If she becomes really unwell, her temperature can go up to 40 degrees.

“She sees about 12 consultants, has from one to six appointments a week, and she has a whole cabinet of medical records.”

 

 

 

 

 

Short URL: http://www.canarianweekly.com/?p=51470

Posted by on Dec 20 2019. Filed under World News. You can follow any responses to this entry through the RSS 2.0. Both comments and pings are currently closed.

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